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将RNA-Seq集成到基因组测序工作流程中,可以增强对导致神经发育障碍的结构变异的分析

Kevin Riquin1, Bertrand Isidor2,3, Sandra Mercier2,3

  • 1l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France kevin.riquin@univ-nantes.fr.

Journal of medical genetics
|July 26, 2023
PubMed
概括

基因组测序 (GS) 可以改善神经发育障碍 (NDD) 的诊断. 将RNA-Seq与GS集成,可以增强变体解释,特别是对于非编码和结构变体,从而提高诊断产量.

关键词:
中枢神经系统疾病 中枢神经系统疾病临床实验室技术 临床实验室技术遗传研究 遗传研究基因检测 基因检测 基因检测基因组学就是基因组学.

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